✦ LIBER ✦

A case of type A insulin resistance associated with heterozygous Asn462Ser mutation of the insulin receptor gene

✍ Scribed by Naoko Hashimoto, Norihide Yokoi, Hisako Komada, Tomokazu Matsuda, Yushi Hirota, Kazuhiko Sakaguchi, Yutaka Takahashi, Wataru Ogawa, Susumu Seino

Book ID: 118303285
Publisher: Springer Japan
Year: 2012
Tongue: English
Weight: 168 KB
Volume: 3
Category: Article
ISSN: 2190-1678
DOI: 10.1007/s13340-012-0079-6

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Two related cases of type A insulin resi

✍ Wataru Ogawa; Kazuya Iwamoto; Hiroyuki Mori; Mitsuru Hashiramoto; Kazuaki Miyake 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 233 KB

Hyperinsulinaemic hypoglycaemia associat

Hyperinsulinaemic hypoglycaemia associated with a heterozygous missense mutation of R1174W in the insulin receptor (IR) gene

✍ Zhimin Huang; Yanbing Li; Tianyi Tang; Wen Xu; Zhihong Liao; Bin Yao; Guoliang H 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 169 KB

Functional properties of a heterozygous

Functional properties of a heterozygous mutation (Arg1174 → Gln) in the tyrosine kinase domain of the insulin receptor from a Type A insulin resistant patient

✍ W. Moritz; E.R. Froesch; M. Böni-Schnetzler 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 545 KB

Molecular characterization of a novel p.

Molecular characterization of a novel p.R118C mutation in the insulin receptor gene from patients with severe insulin resistance

✍ Ali S. Alzahrani; Minjing Zou; Essa Y. Baitei; Ranjit S. Parhar; Nora Al-Kahtani 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 420 KB

Homozygous nonsense mutation in the insu

Homozygous nonsense mutation in the insulin receptor gene of a patient with severe congenital insulin resistance: leprechaunism and the role of the insulin-like growth factor receptor

✍ Nicholas Kaplowitz; Richard W. Furlanetto 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 333 KB

Four Mutant Alleles of the Insulin Recep

Four Mutant Alleles of the Insulin Receptor Gene Associated with Genetic Syndromes of Extreme Insulin Resistance

✍ Hiroko Kadowaki; Yoshihiko Takahashi; Akifumi Ando; Kaoru Momomura; Yasushi Kabu 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 236 KB